Incidental Mutation 'R8893:Adprhl1'
ID |
677834 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adprhl1
|
Ensembl Gene |
ENSMUSG00000031448 |
Gene Name |
ADP-ribosylhydrolase like 1 |
Synonyms |
D330008N11Rik, Arh2 |
MMRRC Submission |
068696-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8893 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
13271663-13304162 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13274511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 749
(D749G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145145
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204916]
|
AlphaFold |
Q8BGK2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000204916
AA Change: D749G
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000145145 Gene: ENSMUSG00000031448 AA Change: D749G
Domain | Start | End | E-Value | Type |
Pfam:ADP_ribosyl_GH
|
6 |
327 |
4.2e-49 |
PFAM |
low complexity region
|
509 |
527 |
N/A |
INTRINSIC |
low complexity region
|
955 |
969 |
N/A |
INTRINSIC |
internal_repeat_1
|
1047 |
1150 |
1.82e-5 |
PROSPERO |
internal_repeat_1
|
1157 |
1274 |
1.82e-5 |
PROSPERO |
low complexity region
|
1275 |
1290 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (57/58) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank1 |
T |
A |
8: 23,598,241 (GRCm39) |
I782N |
probably damaging |
Het |
Arap2 |
T |
A |
5: 62,888,037 (GRCm39) |
Q436H |
probably damaging |
Het |
Baz2b |
A |
C |
2: 59,755,149 (GRCm39) |
F269L |
probably damaging |
Het |
Bivm |
C |
T |
1: 44,158,439 (GRCm39) |
|
probably benign |
Het |
Brsk1 |
A |
T |
7: 4,711,089 (GRCm39) |
D603V |
probably damaging |
Het |
C2cd3 |
C |
T |
7: 100,104,004 (GRCm39) |
P2006S |
probably benign |
Het |
Cacna1a |
T |
C |
8: 85,313,764 (GRCm39) |
F1513L |
probably benign |
Het |
Cdin1 |
T |
A |
2: 115,505,265 (GRCm39) |
S179T |
probably benign |
Het |
Cep128 |
C |
T |
12: 91,263,006 (GRCm39) |
E298K |
probably damaging |
Het |
Cfap74 |
A |
G |
4: 155,531,152 (GRCm39) |
T802A |
unknown |
Het |
Cnbd2 |
G |
A |
2: 156,154,460 (GRCm39) |
R3Q |
unknown |
Het |
Cul9 |
TTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTC |
17: 46,811,775 (GRCm39) |
|
probably benign |
Het |
Defa28 |
C |
T |
8: 22,073,840 (GRCm39) |
T81I |
|
Het |
Dync1h1 |
A |
G |
12: 110,608,477 (GRCm39) |
D2735G |
probably damaging |
Het |
Eif5b |
A |
T |
1: 38,090,300 (GRCm39) |
I1160F |
possibly damaging |
Het |
Fzd9 |
T |
C |
5: 135,279,178 (GRCm39) |
M236V |
possibly damaging |
Het |
H2ac7 |
A |
G |
13: 23,758,664 (GRCm39) |
Q7R |
unknown |
Het |
Haus6 |
A |
G |
4: 86,501,364 (GRCm39) |
S836P |
possibly damaging |
Het |
Hdac5 |
T |
A |
11: 102,097,512 (GRCm39) |
K167I |
possibly damaging |
Het |
Heatr5b |
C |
G |
17: 79,069,424 (GRCm39) |
|
probably benign |
Het |
Impdh1 |
G |
A |
6: 29,216,248 (GRCm39) |
|
probably benign |
Het |
Iqgap3 |
T |
C |
3: 87,997,193 (GRCm39) |
I192T |
probably damaging |
Het |
Lama1 |
C |
T |
17: 68,112,367 (GRCm39) |
A2269V |
|
Het |
Lamb3 |
A |
G |
1: 193,014,644 (GRCm39) |
N601S |
probably damaging |
Het |
Ltbp2 |
G |
T |
12: 84,875,316 (GRCm39) |
N569K |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,304,323 (GRCm39) |
S60G |
probably benign |
Het |
Marchf6 |
A |
T |
15: 31,498,850 (GRCm39) |
V149E |
probably damaging |
Het |
Mcu |
A |
G |
10: 59,287,078 (GRCm39) |
S160P |
probably benign |
Het |
Miga1 |
A |
G |
3: 151,982,294 (GRCm39) |
L594P |
probably damaging |
Het |
Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
Ndst2 |
A |
G |
14: 20,774,830 (GRCm39) |
I791T |
probably benign |
Het |
Nebl |
A |
T |
2: 17,735,671 (GRCm39) |
M1K |
probably null |
Het |
Or2bd2 |
T |
C |
7: 6,443,285 (GRCm39) |
C129R |
probably damaging |
Het |
Or5c1 |
A |
G |
2: 37,222,388 (GRCm39) |
I210V |
probably damaging |
Het |
Ormdl1 |
A |
T |
1: 53,344,708 (GRCm39) |
D90V |
probably damaging |
Het |
Pank1 |
A |
T |
19: 34,804,903 (GRCm39) |
|
probably benign |
Het |
Pcdhac2 |
T |
A |
18: 37,277,071 (GRCm39) |
L17Q |
probably benign |
Het |
Pde3a |
A |
T |
6: 141,405,522 (GRCm39) |
D458V |
probably damaging |
Het |
Pgm1 |
T |
G |
4: 99,824,297 (GRCm39) |
N323K |
probably damaging |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Pigw |
A |
T |
11: 84,767,961 (GRCm39) |
I456K |
possibly damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Plxnc1 |
T |
A |
10: 94,685,709 (GRCm39) |
I761L |
probably benign |
Het |
Pramel22 |
A |
T |
4: 143,382,060 (GRCm39) |
M212K |
probably damaging |
Het |
Prkaca |
A |
G |
8: 84,717,151 (GRCm39) |
N172D |
probably damaging |
Het |
Rab3b |
A |
C |
4: 108,797,925 (GRCm39) |
D192A |
probably benign |
Het |
Rims2 |
T |
C |
15: 39,398,350 (GRCm39) |
L1105P |
probably benign |
Het |
Rinl |
T |
A |
7: 28,491,747 (GRCm39) |
I100N |
probably damaging |
Het |
Rnf13 |
T |
G |
3: 57,714,520 (GRCm39) |
I193S |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,333,868 (GRCm39) |
I3027V |
|
Het |
Sik2 |
A |
T |
9: 50,810,026 (GRCm39) |
S512R |
probably damaging |
Het |
Snx17 |
A |
G |
5: 31,353,887 (GRCm39) |
Y225C |
probably damaging |
Het |
Spata13 |
A |
T |
14: 60,987,524 (GRCm39) |
D894V |
probably damaging |
Het |
Spx |
A |
G |
6: 142,360,543 (GRCm39) |
D65G |
probably damaging |
Het |
Syne1 |
G |
T |
10: 5,299,020 (GRCm39) |
S1022* |
probably null |
Het |
Tchh |
C |
T |
3: 93,354,957 (GRCm39) |
Q1466* |
probably null |
Het |
Tmem120b |
T |
C |
5: 123,254,302 (GRCm39) |
L292P |
probably damaging |
Het |
Vmn2r10 |
T |
C |
5: 109,143,677 (GRCm39) |
T758A |
probably benign |
Het |
Vmn2r45 |
C |
T |
7: 8,488,619 (GRCm39) |
C137Y |
probably damaging |
Het |
Zfp994 |
A |
G |
17: 22,424,306 (GRCm39) |
S4P |
probably damaging |
Het |
|
Other mutations in Adprhl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03268:Adprhl1
|
APN |
8 |
13,296,170 (GRCm39) |
splice site |
probably benign |
|
BB003:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB004:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB005:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB006:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB013:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB014:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB015:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB016:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R0244:Adprhl1
|
UTSW |
8 |
13,292,391 (GRCm39) |
splice site |
probably benign |
|
R0636:Adprhl1
|
UTSW |
8 |
13,298,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R1295:Adprhl1
|
UTSW |
8 |
13,298,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R2111:Adprhl1
|
UTSW |
8 |
13,298,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R2112:Adprhl1
|
UTSW |
8 |
13,298,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R2184:Adprhl1
|
UTSW |
8 |
13,292,559 (GRCm39) |
missense |
probably benign |
0.00 |
R4411:Adprhl1
|
UTSW |
8 |
13,296,114 (GRCm39) |
missense |
probably benign |
0.16 |
R4412:Adprhl1
|
UTSW |
8 |
13,296,114 (GRCm39) |
missense |
probably benign |
0.16 |
R4413:Adprhl1
|
UTSW |
8 |
13,296,114 (GRCm39) |
missense |
probably benign |
0.16 |
R4615:Adprhl1
|
UTSW |
8 |
13,292,250 (GRCm39) |
critical splice donor site |
probably null |
|
R4618:Adprhl1
|
UTSW |
8 |
13,292,250 (GRCm39) |
critical splice donor site |
probably null |
|
R5016:Adprhl1
|
UTSW |
8 |
13,274,889 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5058:Adprhl1
|
UTSW |
8 |
13,292,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R5060:Adprhl1
|
UTSW |
8 |
13,298,621 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5209:Adprhl1
|
UTSW |
8 |
13,292,563 (GRCm39) |
nonsense |
probably null |
|
R6103:Adprhl1
|
UTSW |
8 |
13,272,055 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6158:Adprhl1
|
UTSW |
8 |
13,274,977 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6221:Adprhl1
|
UTSW |
8 |
13,275,634 (GRCm39) |
missense |
probably benign |
0.01 |
R6971:Adprhl1
|
UTSW |
8 |
13,273,476 (GRCm39) |
missense |
probably benign |
|
R7087:Adprhl1
|
UTSW |
8 |
13,271,856 (GRCm39) |
missense |
probably damaging |
0.99 |
R7362:Adprhl1
|
UTSW |
8 |
13,295,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R7404:Adprhl1
|
UTSW |
8 |
13,275,118 (GRCm39) |
missense |
probably damaging |
0.99 |
R7422:Adprhl1
|
UTSW |
8 |
13,272,873 (GRCm39) |
missense |
probably benign |
0.28 |
R7439:Adprhl1
|
UTSW |
8 |
13,273,069 (GRCm39) |
missense |
probably benign |
0.01 |
R7441:Adprhl1
|
UTSW |
8 |
13,273,069 (GRCm39) |
missense |
probably benign |
0.01 |
R7772:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7773:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7774:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7776:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7876:Adprhl1
|
UTSW |
8 |
13,273,509 (GRCm39) |
missense |
probably benign |
0.00 |
R7877:Adprhl1
|
UTSW |
8 |
13,275,316 (GRCm39) |
nonsense |
probably null |
|
R7926:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7927:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7928:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7929:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7944:Adprhl1
|
UTSW |
8 |
13,271,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R7945:Adprhl1
|
UTSW |
8 |
13,271,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R7946:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7947:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7949:Adprhl1
|
UTSW |
8 |
13,274,225 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8155:Adprhl1
|
UTSW |
8 |
13,271,764 (GRCm39) |
missense |
probably damaging |
0.99 |
R8182:Adprhl1
|
UTSW |
8 |
13,272,774 (GRCm39) |
missense |
probably benign |
0.07 |
R8753:Adprhl1
|
UTSW |
8 |
13,272,118 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8799:Adprhl1
|
UTSW |
8 |
13,272,474 (GRCm39) |
missense |
probably benign |
0.00 |
R9022:Adprhl1
|
UTSW |
8 |
13,274,352 (GRCm39) |
missense |
probably benign |
0.00 |
R9161:Adprhl1
|
UTSW |
8 |
13,272,270 (GRCm39) |
missense |
probably damaging |
0.99 |
R9227:Adprhl1
|
UTSW |
8 |
13,271,974 (GRCm39) |
missense |
probably benign |
0.27 |
R9228:Adprhl1
|
UTSW |
8 |
13,275,279 (GRCm39) |
missense |
probably benign |
|
R9283:Adprhl1
|
UTSW |
8 |
13,273,540 (GRCm39) |
missense |
probably benign |
|
R9426:Adprhl1
|
UTSW |
8 |
13,274,034 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9648:Adprhl1
|
UTSW |
8 |
13,273,245 (GRCm39) |
missense |
probably benign |
0.40 |
Z1176:Adprhl1
|
UTSW |
8 |
13,275,613 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Adprhl1
|
UTSW |
8 |
13,295,476 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAACGATGGGAAGCTGCAC -3'
(R):5'- GACGTGGGTTTCTCTGGCATAC -3'
Sequencing Primer
(F):5'- GAAGCTGCACGGTGATTTG -3'
(R):5'- CTCTGGCATACCTACTAATGGCAATG -3'
|
Posted On |
2021-08-02 |